Pearls & Oy-sters: Familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency

نویسندگان
چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency.

Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disease included in the group of homocysteine remethylation disorders. The MTHFR catalyzes the irreversible conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. Besides the well-known association of thrombophilic defects with MTHFR variants and elevated homocysteine, few patients with MTHFR...

متن کامل

Pearls & Oy-sters: paroxysmal ocular tilt reaction.

Amadeo R. Rodriguez, MD Robert A. Egan, MD Jason J.S. Barton, MD, PhD, FRCPC In skew deviation, one eye is higher than the other, causing vertical diplopia. Skew deviation is a prenuclear disorder resulting from imbalance in otolith input to the oculomotor system, produced by unilateral lesions anywhere from the otoliths to the interstitial nucleus of Cajal in the rostral midbrain,1 and as such...

متن کامل

Pearls & oy-sters: oval pupil: two observations.

The presence of an oval pupil usually localizes the neurologic problem to the midbrain.

متن کامل

Pearls & Oy-sters: optic tract syndrome.

• The optic tract syndrome is characterized by a contralateral, incongruous homonymous hemianopia, contralateral relative afferent pupillary defect (RAPD), and optic atrophy due to retrograde axonal degeneration. • Optic disc pallor often results in a pattern of bowtie atrophy of the eye with temporal field loss and atrophy of the upper and lower poles of the disc of the eye with nasal field lo...

متن کامل

Pearls & Oy-sters: trigeminal autonomic cephalalgias.

Chad A. Whyte, MD Stewart J. Tepper, MD The trigeminal autonomic cephalalgias (TACs) are a group of primary headaches that are characterized by unilaterality of pain, a relatively short duration of symptoms, and associated ipsilateral cranial autonomic symptoms, such as Horner syndrome, lacrimation, and nasal congestion. Incidence is rare when compared to other primary headache disorders but di...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Neurology

سال: 2014

ISSN: 0028-3878,1526-632X

DOI: 10.1212/wnl.0000000000000591